Fig. 1: ARPC5 deficiency – description and phenotype. | Nature Communications

Fig. 1: ARPC5 deficiency – description and phenotype.

From: Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

Fig. 1

a Family pedigrees from patients with ARPC5 variants. Arrows point to the patients studied (P1 in Family 1, P2 in Family 2); Roman numerals indicate generations. b Table depicting the main clinical and laboratory findings in P1 and P2. Negative symbols (−) denote absence; crosses, from (+) to (+++) indicate less to more severe phenotypes, respectively. c Patient 1 images. In the left image, a standing radiograph of P1 shows biconvex thoracolumbar scoliosis with convex right thoracic spinal curvature and convex left thoracolumbar spinal curvature; a right upper lobe pneumatocele is also identified. In the right images (upper, middle and lower, respectively), lung ground glass opacities, multiple abdominal scars product of abnormal wound healing, and right sided myositis of the thigh, are also detected.

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